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Publication date Communities Collections Article title Author(s) Journal/Conference
25 Mar 2026 BMRC Bioinformatics Institute Translating multi-omics into healthcare: requisites for scalable and equitable implementation (Pending publish) Birute Tumiene, David R. Adams, Robert Allaway, Maria J. Barrero, Chun-Hung Chan, Víctor Faundes, Vanessa S. Fear, Polina Glezer, Claudia Fuchs, Tudor Groza, Elisa J. F. Houwink, Saumya Shekhar Jamuar, Mary Catherine V. Letinturier, Richa Madan Lomash, Ratna Dua Puri, Juergen K. V. Reichardt, Ruty Mehrian-Shai, Francois H. van der Westhuizen, Gaurav K. Varshney, Shinya Yamamoto, Gareth Baynam Human Genomics
26 Feb 2026 BMRC Bioinformatics Institute Reimagining care of people living with rare diseases with artificial intelligence (Pending publish) Tudor Groza, Gareth Baynam, Saumya Shekhar Jamuar PLOS Medicine
11 Dec 2025 BMRC Bioinformatics Institute A systematic assessment of large language models’ knowledge of rare diseases: How much do large language models know about rare disease? (Pending publish) Tudor Groza, Allison J. Marcello, Tristan Carlisle, Weng Khong Lim, Melissa Haendel, Neerja Karnani, Peter N. Robinson, Holm Graessner, Jessica X. Chong, Gareth Baynam, Saumya Shekhar Jamuar Human Genetics and Genomics Advances
25 Nov 2025 BMRC Bioinformatics Institute Information content as a health system screening tool for rare diseases (Pending publish) Tudor Groza, Peter N. Robinson, Weng Khong Lim, Kaavya Narasimhalu, Jenny Hsieh, Khung Keong Yeo, Goh Bee Keow, Terrence Thomas, Tien Yin Wong, Neerja Karnani, Gareth Baynam, Saumya Shekhar Jamuar npj Digital Medicine
16 Apr 2025 BMRC Bioinformatics Institute First steps toward building natural history of diseases computationally: Lessons learned from the Noonan syndrome use case (Pending publish) Tudor Groza, Warittha Rayabsri, Dylan Gration, Harshini Hariram, Saumya Shekhar Jamuar, Gareth Baynam The American Journal of Human Genetics
28 Dec 2017 BMRC Institute of Molecular and Cell Biology KIAA1109 Variants Are Associated with a Severe Disorder of Brain Development and Arthrogryposis Lucie Gueneau, Richard J. Fish, Hanan E. Shamseldin, Norine Voisin, Frédéric Tran Mau-Them, Egle Preiksaitiene, Glen R. Monroe, Angeline Lai, Audrey Putoux, Fabienne Allias, Qamariya Ambusaidi, Laima Ambrozaityte, Loreta Cimbalistienė, Julien Delafontaine, Nicolas Guex, Mais Hashem, Wesam Kurdi, Saumya Shekhar Jamuar, Lim J. Ying, Carine Bonnard, Tommaso Pippucci, Sylvain Pradervand, Bernd Roechert, Peter M. van Hasselt, Michaël Wiederkehr, Caroline F. Wright, Ioannis Xenarios, Gijs van Haaften, Charles Shaw-Smith, Erica M. Schindewolf, Marguerite Neerman-Arbez, Damien Sanlaville, Gaëtan Lesca, Laurent Guibaud, Bruno Reversade, Jamel Chelly, Vaidutis Kučinskas, Fowzan S. Alkuraya, Alexandre Reymond, Alexandre Reymond The American Journal of Human Genetics